A10E (p.Ala10Glu) variant of EGFR (Epidermal growth factor receptor)
A10E (p.Ala10Glu) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A10E (p.Ala10Glu) variant details
- p.Ala10Glu
- rs1217714114
- ClinGen CA367611209
- ClinVar RCV001967818
- ClinVar RCV005331064
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.51
- MetaLR 0.36
- MetaSVM -0.79
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Treatment of stage IV non-small cell lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of… (PMID 23649446)